C5231405[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185510	NM_004204.5(PIGQ):c.-9-1501A>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1164853	NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala)	PIGQ (T14A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1164854	NM_004204.5(PIGQ):c.639C>T (p.Cys213=)	PIGQ	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1185511	NM_004204.5(PIGQ):c.942+92A>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185512	NM_004204.5(PIGQ):c.943-77A>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185513	NM_004204.5(PIGQ):c.1224-63C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1185514	NM_004204.5(PIGQ):c.1336-94C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185515	NM_004204.5(PIGQ):c.1416+104C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185516	NM_004204.5(PIGQ):c.1416+142T>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1164855	NM_004204.5(PIGQ):c.1461C>G (p.Leu487=)	PIGQ	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185517	NM_004204.5(PIGQ):c.1532-133G>A	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1185518	NM_004204.5(PIGQ):c.1532-110C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185567	NM_004204.5(PIGQ):c.1532-68G>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185304	NM_004204.5(PIGQ):c.1532-50T>A	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185305	NM_004204.5(PIGQ):c.1532-23T>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1164856	NM_004204.5(PIGQ):c.1532-17del	PIGQ	Deletion (intron variant)	not specified +3 more	GBenign
Select item 1164857	NM_004204.5(PIGQ):c.1532-15T>C	PIGQ	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1164858	NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser)	PIGQ (G523S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign